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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **7176 - 7200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:11199	hypoparathyroidism	GATA3 TBCE	2625 6905	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060348	hypoparathyroidism-retardation-dysmorphism syndrome Aliases: HRD syndrome Sanjad-Sakati syndrome hypoparathyroidism with short stature, mental retardation and seizures	GATA3 TBCE	2625 6905	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111947	immunodeficiency 21 Aliases: DCML GATA2 deficiency IMD21 MonoMAC combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections dendritic cell, monocyte, B and NK lymphoid deficiency monocyte-B-natural killer-dendritic cell deficiency syndrome monocytopenia and mycobacterial infection syndrome monocytopenia with susceptibility to infections	GATA2	2624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080131	mitochondrial DNA depletion syndrome 13 Aliases: FBXL4 deficiency FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome 13, encephalomyopathic type	FBXL4	26235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070444	neurodevelopmental disorder with language delay and seizures	TIAM1 TIAM2	26230 7074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	B3GAT3	26229	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080076	Neu-Laxova syndrome 1	PHGDH	26227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050722	PHGDH deficiency Aliases: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	PHGDH	26227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070346	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	INTS1	26173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060712	autosomal recessive congenital ichthyosis 4A Aliases: ARCI4A ICR2B ichthyosis congenita IIB lamellar ichthyosis 2	ABCA12	26154	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060656	autosomal recessive congenital ichthyosis 1 Aliases: ARCI1	ABCA12	26154	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050576	Senior-Loken syndrome Aliases: Loken Senior syndrome renal-retinal syndrome	TRAF3IP1	26146	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081327	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Aliases: NEDAMSS	IRF2BP1 IRF2BP2 IRF2BPL	26145 359948 64207	Homo sapiens (human)	Alliance of Genome Resources
DOID:331	central nervous system disease	ACO2 GRIA1 GRIA2 GRIA3 GRIA4 HGF IL6 IRF2BP1 IRF2BP2 IRF2BPL SMARCA1 SMARCA5 TAOK1 TAOK2 TMEM63A TMEM63B TMEM63C	26145 2890 2891 2892 2893 3082 3569 359948 50 55362 57156 57551 64207 6594 8467 9344 9725	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060374	orofaciodigital syndrome IV Aliases: Baraitser-Burn syndrome OFD4	TCTN3	26123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110987	Joubert syndrome 18 Aliases: JBTS18	TCTN3	26123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081430	intellectual developmental disorder with autistic features and language delay, with or without seizures Aliases: IDDALDS	TANC1 TANC2	26115 85461	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110289	autosomal recessive limb-girdle muscular dystrophy type 2Y Aliases: LGMD2Y autosomal recessive muscular dystrophy due to LAP1B deficiency autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency muscular dystrophy with progressive weakness, distal contractures and rigid spine muscular dystrophy, limb-girdle, type 2Y	TOR1AIP1	26092	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080181	PHARC syndrome Aliases: polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	ABHD12	26090	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111111	maturity-onset diabetes of the young type 14 Aliases: MODY14	APPL1	26060	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070056	autosomal dominant intellectual developmental disorder 26 Aliases: MRD26 autosomal dominant mental retardation 26 autosomal dominant non-syndromic intellectual disability 26	AUTS2	26053	Homo sapiens (human)	Alliance of Genome Resources
DOID:4189	mutism	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060244	specific language impairment	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:13365	reading disorder	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090130	cortical dysplasia-focal epilepsy syndrome Aliases: CDFE syndrome CDFES PTHSL1 Pitt-Hopkins-like syndrome-1	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources

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